Phenotypes associated with the disease cone-rod dystrophy 18 (OMIM:615374):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:23746546)
- Foveal atrophy (HP:0025010): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the fovea. Evidence: PCS. Frequency: 1/5. (PMID:23746546)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:23746546)
- Foveal hyperpigmentation (HP:0008001): Increased amount of pigmentation in the fovea. Evidence: PCS. Frequency: 3/4. (PMID:23746546)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:23746546)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. (PMID:23746546)
- Central scotoma (HP:0000603): An area of depressed vision located at the point of fixation and that interferes with central vision. Evidence: PCS. Frequency: 1/3. (PMID:23746546)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 4/4. (PMID:23746546)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. Frequency: 5/5. (PMID:23746546)